Журнал клинических случаев

Habitual Joint Dislocations and Recurrent Multiple Hernias: An UnusualConnective Tissue Disease?

Abstract

Claudio Spinelli, Jessica Piscioneri, Leonardo Rossi, Silvia Strambi and Concetta Liloia

Purpose: Joint laxity and hernia defects are two well-defined conditions that are rarely described in association in literature. The purpose of this study is to describe a peculiar case of connective tissue disorder, not yet defined, whose features are habitual joint dislocations associated with recurrent and multiple hernias. Methods: This is an unusual case regarding a 22 years old male adult, who presented shoulder, patellar, mandibular habitual joint dislocations associated with groin, femoral, epigastric, umbilical, spigelian and lumbar hernias. His phenotype, consisting of tall stature and joint laxity, recalls a similar-marfanoid habitus. Results: Marfan Syndrome, Ehlers-Danlos syndrome, MEN-2B were excluded by specific assessments. The aspecific clinical features of the patient do not consent the identification of an exact diagnosis. Conclusion: This medical case, characterized by joint hypermobility and multiple recurrent hernias, probably consists in an unacknowledged peculiar case of connective tissue disorder. Further investigations and identification of subjects with similar features could be surely useful to diagnostic research and definitive characterization of patient’s disease.